Abstract
Newborn screening for X-linked Adrenoleukodystrophy (X-ALD) has been expanding across the United States, increasing the frequency of follow-up diagnostic testing in breastfeeding infants. X-ALD is caused by pathogenic variants in the ABCD1 gene, resulting in toxic accumulation of very long chain fatty acids (VLCFA) in the brain, spinal cord, and adrenal glands. Affected males may present with progressive cerebral disease, adrenomyeloneuropathy, or isolated adrenal insufficiency. The primary biomarkers of X-ALD are elevations of C26 and C26/C22 and C24/C22 ratios in plasma.
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